MYCT1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1, SYNE1-AS1 +31 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 154821	GRCh38/hg38 6q25.2(chr6:152376315-152902773)x3	LINC02840, LOC126859838 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 2242835	NM_025107.3(MYCT1):c.5G>A (p.Arg2Gln)	MYCT1 (R2Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3155405	NM_025107.3(MYCT1):c.17A>T (p.Tyr6Phe)	MYCT1 (Y6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155439	NM_025107.3(MYCT1):c.88G>A (p.Asp30Asn)	MYCT1 (D30N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2605608	NM_025107.3(MYCT1):c.152A>G (p.Asn51Ser)	MYCT1 (N3S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024889	NM_025107.3(MYCT1):c.243A>T (p.Val81=)	LOC126859840, MYCT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3155410	NM_025107.3(MYCT1):c.268T>C (p.Phe90Leu)	LOC126859840, MYCT1 (F42L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348970	NM_025107.3(MYCT1):c.293G>C (p.Arg98Thr)	LOC126859840, MYCT1 (R50T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218090	NM_025107.3(MYCT1):c.299G>C (p.Ser100Thr)	LOC126859840, MYCT1 (S100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155417	NM_025107.3(MYCT1):c.304C>G (p.Pro102Ala)	LOC126859840, MYCT1 (P102A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272708	NM_025107.3(MYCT1):c.337A>G (p.Arg113Gly)	LOC126859840, MYCT1 (R65G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297301	NM_025107.3(MYCT1):c.425T>G (p.Leu142Arg)	LOC126859840, MYCT1 (L142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532322	NM_025107.3(MYCT1):c.520C>T (p.Pro174Ser)	LOC126859840, MYCT1 (P126S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296784	NM_025107.3(MYCT1):c.523C>T (p.Pro175Ser)	LOC126859840, MYCT1 (P127S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297300	NM_025107.3(MYCT1):c.530C>T (p.Pro177Leu)	LOC126859840, MYCT1 (P129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155424	NM_025107.3(MYCT1):c.589A>T (p.Ser197Cys)	LOC126859840, MYCT1 (S149C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307522	NM_025107.3(MYCT1):c.659C>T (p.Pro220Leu)	LOC126859840, MYCT1 (P172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155432	NM_025107.3(MYCT1):c.677A>T (p.Glu226Val)	LOC126859840, MYCT1 (E178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155436	NM_025107.3(MYCT1):c.679T>G (p.Ser227Ala)	LOC126859840, MYCT1 (S227A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246023	NC_000006.11:g.(?_152949380)_(154441965_?)del	MTRF1L, FBXO5 +5 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1527306	GRCh37/hg19 6q25.2(chr6:152683412-153236408)	MYCT1, SYNE1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 814882	GRCh37/hg19 6q25.2(chr6:152681951-153241273)x3	SYNE1, MYCT1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 254020	GRCh37/hg19 6q25.2(chr6:152702696-153345479)x4	SYNE1-AS1, FBXO5 +5 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41